Results 61 to 70 of about 9,662 (202)

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann, Göknur Haliloğlu, Maria Antonia Grimalt, Damjan Osredkar, Ana Vesperinas Castro, Silvia Cerezo Corredera, Angela Abicht, Adalet Elçin Yıldız, Johann Böhm, Ulrike Schara‐Schmidt, Anja Troha Gergeli, Berta Estevez‐Arias, Elena Cortes Vicente, Andres Nascimento, Adela Della Marina, Daniel Natera‐de Benito, Andreas Roos   +16 more
wiley   +1 more source

Pectus Excavatum and Risk of Right Ventricular Failure in Left Ventricular Assist Device Patients

Reviews in Cardiovascular Medicine, 2023
Background: Right ventricular failure (RVF) is a significant cause of morbidity and mortality in patients with a left ventricular assist device (LVAD).
Casper F. Zijderhand, Yunus C. Yalcin, Jelena Sjatskig, Daniel Bos, Alina A. Constantinescu, Olivier C. Manintveld, Ozcan Birim, Jos A. Bekkers, Ad J. J. C. Bogers, Kadir Caliskan   +9 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Anatomical Challenges During Left‐Sided Accessory Pathway Ablation in a Patient With Pectus Carinatum

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
In a patient presenting with Wolff‐Parkinson‐White syndrome and pectus carinatum, cardiac rotation rendered conventional RAO and LAO views unreliable during left‐sided accessory pathway ablation. Customized fluoroscopic views with caudal angulation allowed for successful ablation, supporting pre‐procedural CT imaging to plan for patient specific ...
Shonda Ng, Shih‐Lin Chang, Danica Ann D. Leycano, Li‐Wei Lo, Shih‐Ann Chen   +4 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

EVALUATION OF IDIOPATHIC SCOLIOSIS IN SUBTYPES OF PECTUS EXCAVATUM AND CARINATUM [PDF]

Acta Ortopédica Brasileira
Objective: Evaluation of epidemiological data on Idiopathic Scoliosis in patients with different pectus subtypes. Methods: A medical record analysis of 418 patients with pectus, associated with idiopathic scoliosis above 10°, with research on: subtypes ...
Davi de Podesta Haje, Guilherme Antunes Barriviera, Marcos Vinícius Santana Silva, Caroline Kaori Maebayashi   +3 more
doaj   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Kartagener syndrome with pectus excavatum and upper lobar bronchiectasis

Primary Ciliary Dyskinesia (PCD) is a rare autosomal recessive disorder caused by impaired ciliary function. The incidence of PCD is 1 in 20,000 births. Kartagener's syndrome (KS), a subtype of PCD, is distinguished by the presence of situs inversus.
Chua, WJ, Saini, SK, Liao, HT, Khan, ZS, Manikkam, S   +4 more
core   +1 more source

Minimally invasive repair of pectus excavatum (MIRPE) in adults: is it a proper choice? [PDF]

, 2016
Introduction : The Nuss procedure is suitable for prepubertal and early pubertal patients but can also be used in adult patients. Aim : To determine whether the minimally invasive technique (MIRPE) can also be performed successfully in adults ...
Hasan Volkan Kara, Kamil Kaynak, Osman Yakşi, Cem Sayılgan, Akif Turna, Kara, Hasan Volkan, Ahmet Demirkaya, Alizade, Nurlan, Ersen, Ezel, Kaynak, Kamil, Özkan Demirhan, Demirhan, Ozkan, DEMİRKAYA, Ahmet, Kilic, Burcu, Sayilgan, Cem, Turna, Akif, Ezel Erşen, Burcu Kılıç, Nurlan Alizade, Yaksi, Osman   +19 more
core   +1 more source